ACTA2 is not a major disease-causing gene for moyamoya disease

Shimojima, Keiko; Yamamoto, Toshiyuki

doi:10.1038/jhg.2009.91

Correspondence
Published: 11 September 2009

ACTA2 is not a major disease-causing gene for moyamoya disease

Keiko Shimojima¹ &
Toshiyuki Yamamoto¹

Journal of Human Genetics volume 54, pages 687–688 (2009)Cite this article

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In 2007, Guo et al.¹ reported mutations of the vascular smooth muscle cell-specific isoform of α-actin (ACTA2), a major component of the contractile apparatus in smooth muscle cells located throughout the arterial system, in patients with thoracic aortic aneurysms and dissections (TAAD). This is the second responsible gene for familial TAAD, and the first is the β-myosin heavy chain (MYH11).^{2, 3} Subsequently, in 2009, Guo et al.⁴ reported again that the mutations of ACTA2 caused not only familial TAAD but also a diversity of vascular disease, including premature onset of coronary artery disease and premature ischemic strokes. Interestingly, moyamoya disease (MMD) was also included in this variety derived from ACTA2 mutations. Briefly, two families with ACTA2 mutations, TAA105 with p.R258H and TAA390 with p.R258C, who had not been described as having MMD, were reported to have familial MMD.⁴

Moyamoya disease is a specific cerebrovascular disease characterized by stenosis or occlusion of the terminal portions of the internal carotid arteries and the formation of an abnormal vascular network in the vicinity of the arterial occlusion.⁴ In 1969, this entity was first described in English as ‘moyamoya disease’; moyamoya is a Japanese word that means something hazy such as a puff of cigarette smoke, drifting in the air.⁵ Since then, many similar cases have been reported mainly in Japan and Korea, and it turned out to be extremely rare in non-Asian populations.^{6, 7, 8} Its prevalence in the entire Japanese population is estimated to be 3 per 100 000 persons.⁹ MMD occurs more frequently in females (male-to-female ratio of 2:3) and is prevalent among patients <10 years of age.^{6, 9} Juvenile patients with MMD initially present with transient motor disturbances—that is, symptoms of transient brain ischemia—whereas adults present with intracranial hemorrhage. The symptoms in juvenile patients are due to the narrowing or occlusion of the circle of Willis, and those in adults are due to a collapse of collateral circulation, which gradually develops as a result of the occlusion of carotid fork at a younger age.

References

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Acknowledgements

This work was supported by the Program for Promoting the Establishment of Strategic Research Centers, Special Coordination Funds for Promoting Science and Technology, Ministry of Education, Culture, Sports, Science and Technology (Japan).

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International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
Keiko Shimojima & Toshiyuki Yamamoto

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Keiko Shimojima
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Shimojima, K., Yamamoto, T. ACTA2 is not a major disease-causing gene for moyamoya disease. J Hum Genet 54, 687–688 (2009). https://doi.org/10.1038/jhg.2009.91

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Published: 11 September 2009
Issue date: November 2009
DOI: https://doi.org/10.1038/jhg.2009.91

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Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing

The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

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Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing

The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

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